ClinVar Miner

List of variants studied for Age related macular degeneration 1

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ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.11684-13G>A rs10157742 0.64202
NM_031935.3(HMCN1):c.8885-7A>G rs6425017 0.63553
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=) rs7522627 0.63057
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650 0.53397
NM_031935.3(HMCN1):c.12230-7A>C rs2057388 0.52362
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) rs10911825 0.39391
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) rs6665753 0.35166
NM_031935.3(HMCN1):c.*674C>T rs1056456 0.24195
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719 0.16805
NM_031935.3(HMCN1):c.14266+17G>C rs17531405 0.12803
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507 0.08845
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374 0.04046
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) rs35576281 0.03312
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=) rs77026548 0.03129
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) rs34460141 0.03127
NM_031935.3(HMCN1):c.*937A>G rs41317509 0.02893
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393 0.02671
NM_031935.3(HMCN1):c.11849-8A>C rs78780269 0.02456
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) rs74134272 0.02399
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176 0.01714
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile) rs12067376 0.01472
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=) rs3737942 0.01470
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) rs12087462 0.01418
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) rs41317491 0.01364
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910 0.01345
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg) rs78541701 0.01250
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) rs16824983 0.01216
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296 0.01178
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) rs149550536 0.01074
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys) rs76748242 0.01024
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) rs41317489 0.00992
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp) rs74136012 0.00984
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=) rs57832192 0.00905
NM_031935.3(HMCN1):c.13040-3C>T rs41317493 0.00895
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) rs75687673 0.00845
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_031935.3(HMCN1):c.*422A>C rs145533442 0.00689
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) rs115874887 0.00678
NM_031935.3(HMCN1):c.6029-11G>T rs10911802 0.00678
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_031935.3(HMCN1):c.8757T>C (p.His2919=) rs148188970 0.00653
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) rs75161007 0.00507
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070 0.00480
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His) rs74136049 0.00474
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=) rs114051074 0.00463
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) rs116300191 0.00436
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) rs143866315 0.00404
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met) rs139870667 0.00379
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile) rs141096306 0.00371
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00356
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn) rs74136061 0.00324
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val) rs114270813 0.00309
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) rs114669703 0.00259
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp) rs41317483 0.00239
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00229
NM_031935.3(HMCN1):c.15256+4A>T rs184102616 0.00225
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) rs35856562 0.00193
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00191
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) rs143271285 0.00156
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln) rs147189545 0.00152
NM_031935.3(HMCN1):c.2372-3C>T rs186546131 0.00139
NM_031935.3(HMCN1):c.-151C>A rs143020055 0.00118
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) rs139490011 0.00113
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335 0.00112
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp) rs147995526 0.00111
NM_031935.3(HMCN1):c.865G>A (p.Val289Met) rs144384070 0.00108
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00101
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser) rs144994573 0.00096
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00095
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp) rs146671871 0.00093
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107 0.00091
NM_031935.3(HMCN1):c.5851+10del rs375820274 0.00091
NM_031935.3(HMCN1):c.13231-4A>G rs191690433 0.00081
NM_031935.3(HMCN1):c.15440-13C>T rs12034495 0.00081
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179 0.00076
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) rs121434382 0.00070
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala) rs201865736 0.00063
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val) rs150618921 0.00061
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_031935.3(HMCN1):c.*418A>G rs756210638 0.00060
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) rs147769095 0.00060
NM_031935.3(HMCN1):c.*588T>C rs1029168553 0.00058
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977 0.00057
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) rs199613884 0.00050
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr) rs143665535 0.00048
NM_031935.3(HMCN1):c.16460G>A (p.Arg5487His) rs184128357 0.00047
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=) rs146430539 0.00047
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln) rs145398864 0.00046
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227 0.00046
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe) rs140559544 0.00046
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe) rs137903471 0.00045
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr) rs150811327 0.00041
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser) rs141099682 0.00040
NM_031935.3(HMCN1):c.11404+11G>A rs187354891 0.00039
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys) rs137942830 0.00038
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val) rs145889775 0.00038
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val) rs138409434 0.00037
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=) rs140981285 0.00036
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=) rs141371119 0.00036
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro) rs148265876 0.00036
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly) rs182468717 0.00035
NM_031935.3(HMCN1):c.*669A>G rs577673255 0.00034
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00033
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) rs201563661 0.00033
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) rs201628935 0.00033
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val) rs145595000 0.00031
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=) rs149752078 0.00031
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=) rs140778669 0.00030
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln) rs140296295 0.00030
NM_031935.3(HMCN1):c.10989+5A>G rs200045422 0.00029
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) rs147296385 0.00029
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile) rs145758069 0.00029
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val) rs41317503 0.00028
NM_031935.3(HMCN1):c.*92A>G rs558737295 0.00026
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) rs147851396 0.00026
NM_031935.3(HMCN1):c.1021+8T>C rs199547255 0.00024
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) rs199585281 0.00024
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met) rs201379680 0.00023
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val) rs141213545 0.00021
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His) rs148097981 0.00021
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00020
NM_031935.3(HMCN1):c.15440-9C>T rs374670687 0.00019
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00019
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala) rs138440972 0.00018
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser) rs376910631 0.00017
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser) rs199920138 0.00017
NM_031935.3(HMCN1):c.*872C>T rs746238036 0.00016
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys) rs149594098 0.00016
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn) rs139899015 0.00016
NM_031935.3(HMCN1):c.9888-5C>T rs142970299 0.00016
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile) rs200642597 0.00015
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val) rs781513060 0.00015
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met) rs140990615 0.00015
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys) rs199574143 0.00014
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu) rs199984579 0.00014
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His) rs41317505 0.00014
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe) rs188107197 0.00014
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) rs76432158 0.00014
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=) rs147891898 0.00013
NM_031935.3(HMCN1):c.*327C>A rs541810746 0.00011
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr) rs145955451 0.00011
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser) rs757430423 0.00011
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) rs147974906 0.00011
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) rs368757349 0.00011
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln) rs202206115 0.00011
NM_031935.3(HMCN1):c.*18A>G rs202061344 0.00010
NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln) rs140641844 0.00010
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu) rs372803002 0.00010
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=) rs181852740 0.00010
NM_031935.3(HMCN1):c.*884C>G rs753718697 0.00009
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=) rs41317461 0.00009
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser) rs77460954 0.00009
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser) rs143393655 0.00009
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr) rs199945360 0.00009
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln) rs116409560 0.00009
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile) rs376810057 0.00009
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val) rs752692827 0.00008
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr) rs754660196 0.00008
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937 0.00008
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu) rs146636123 0.00007
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr) rs184081240 0.00007
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp) rs371095992 0.00007
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly) rs776783939 0.00007
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile) rs769706639 0.00007
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His) rs370518238 0.00007
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys) rs41317477 0.00007
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala) rs201878929 0.00007
NM_031935.3(HMCN1):c.*689G>A rs978833235 0.00006
NM_031935.3(HMCN1):c.13230+9C>T rs573598298 0.00006
NM_031935.3(HMCN1):c.13441T>A (p.Ser4481Thr) rs778062119 0.00006
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr) rs747405345 0.00006
NM_031935.3(HMCN1):c.13582+11T>C rs764698262 0.00006
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg) rs375692254 0.00006
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn) rs200601125 0.00006
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val) rs371177035 0.00006
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=) rs758248236 0.00006
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp) rs376132541 0.00006
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=) rs150757082 0.00005
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met) rs146247104 0.00005
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg) rs770537331 0.00005
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met) rs553018813 0.00005
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys) rs370251638 0.00005
NM_031935.3(HMCN1):c.4348+11C>T rs755881880 0.00005
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser) rs772105060 0.00005
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln) rs777060812 0.00005
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile) rs147722917 0.00005
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=) rs183725854 0.00005
NM_031935.3(HMCN1):c.-87T>C rs886045658 0.00004
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser) rs367750334 0.00004
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln) rs565996021 0.00004
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val) rs146177894 0.00004
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) rs202140956 0.00004
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=) rs764895427 0.00004
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val) rs754953588 0.00004
NM_031935.3(HMCN1):c.15689-7T>C rs370901552 0.00004
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro) rs779907065 0.00004
NM_031935.3(HMCN1):c.3048+12A>G rs759007264 0.00004
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe) rs369263478 0.00004
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys) rs575710648 0.00004
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro) rs201953947 0.00004
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn) rs140480677 0.00004
NM_031935.3(HMCN1):c.498+15A>C rs565661847 0.00004
NM_031935.3(HMCN1):c.5749+6G>A rs575776317 0.00004
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=) rs747509922 0.00004
NM_031935.3(HMCN1):c.6701-4G>C rs780518184 0.00004
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr) rs536019281 0.00004
NM_031935.3(HMCN1):c.8485+14C>T rs201345841 0.00004
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter) rs142475663 0.00004
NM_031935.3(HMCN1):c.9057T>A (p.Thr3019=) rs745727347 0.00004
NM_031935.3(HMCN1):c.9446-10T>A rs753374697 0.00004
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp) rs1404028877 0.00004
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met) rs367681878 0.00004
NM_031935.3(HMCN1):c.-121A>G rs1413424553 0.00003
NM_031935.3(HMCN1):c.-156G>A rs886045657 0.00003
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile) rs773110395 0.00003
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu) rs766042341 0.00003
NM_031935.3(HMCN1):c.12876A>G (p.Thr4292=) rs886045684 0.00003
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg) rs373876634 0.00003
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His) rs766387783 0.00003
NM_031935.3(HMCN1):c.2098+12C>A rs776336811 0.00003
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe) rs754608294 0.00003
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu) rs373402377 0.00003
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His) rs527332989 0.00003
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=) rs566865273 0.00003
NM_031935.3(HMCN1):c.4090A>C (p.Lys1364Gln) rs777994384 0.00003
NM_031935.3(HMCN1):c.4910-14A>G rs767012387 0.00003
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser) rs199971679 0.00003
NM_031935.3(HMCN1):c.5852-12T>G rs373816059 0.00003
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His) rs559595305 0.00003
NM_031935.3(HMCN1):c.8139+7C>A rs201246528 0.00003
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala) rs537694143 0.00002
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908 0.00002
NM_031935.3(HMCN1):c.15320-7C>T rs745639179 0.00002
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln) rs370909774 0.00002
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002
NM_031935.3(HMCN1):c.16295-9C>T rs760760319 0.00002
NM_031935.3(HMCN1):c.1956C>T (p.Ile652=) rs766591582 0.00002
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe) rs367914815 0.00002
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=) rs146365142 0.00002
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys) rs779454634 0.00002
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val) rs200327975 0.00002
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=) rs776416150 0.00002
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu) rs749154171 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_031935.3(HMCN1):c.9047-12A>G rs767424930 0.00002
NM_031935.3(HMCN1):c.9081A>G (p.Val3027=) rs573229310 0.00002
NM_031935.3(HMCN1):c.9685A>G (p.Met3229Val) rs779147330 0.00002
NM_021023.6(CFHR3):c.803G>T (p.Cys268Phe) rs745503234 0.00001
NM_031935.3(HMCN1):c.*234G>A rs564259144 0.00001
NM_031935.3(HMCN1):c.*902G>C rs886045698 0.00001
NM_031935.3(HMCN1):c.10230G>A (p.Val3410=) rs747892157 0.00001
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr) rs751358209 0.00001
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr) rs746480984 0.00001
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln) rs745313929 0.00001
NM_031935.3(HMCN1):c.11443G>A (p.Val3815Ile) rs569383096 0.00001
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg) rs777770411 0.00001
NM_031935.3(HMCN1):c.12159T>G (p.Ala4053=) rs752738056 0.00001
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=) rs886045682 0.00001
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=) rs1160639880 0.00001
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys) rs1400175925 0.00001
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00001
NM_031935.3(HMCN1):c.1285+7C>T rs753115471 0.00001
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile) rs200984902 0.00001
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met) rs563362752 0.00001
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=) rs763275429 0.00001
NM_031935.3(HMCN1):c.13925-10G>C rs755762622 0.00001
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp) rs768284133 0.00001
NM_031935.3(HMCN1):c.14896+8T>A rs767566761 0.00001
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp) rs536701183 0.00001
NM_031935.3(HMCN1):c.15371C>T (p.Ala5124Val) rs767070754 0.00001
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn) rs886045689 0.00001
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser) rs777284205 0.00001
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val) rs748823261 0.00001
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=) rs373461955 0.00001
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=) rs761197473 0.00001
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920 0.00001
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln) rs748032823 0.00001
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp) rs1046849931 0.00001
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg) rs368702685 0.00001
NM_031935.3(HMCN1):c.2670A>G (p.Pro890=) rs201113609 0.00001
NM_031935.3(HMCN1):c.3172G>A (p.Gly1058Ser) rs1418379831 0.00001
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met) rs762631011 0.00001
NM_031935.3(HMCN1):c.3426T>C (p.Thr1142=) rs886045668 0.00001
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu) rs780422973 0.00001
NM_031935.3(HMCN1):c.4200+6T>C rs759273685 0.00001
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=) rs886045670 0.00001
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn) rs762354666 0.00001
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser) rs1332606772 0.00001
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His) rs886045671 0.00001
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile) rs766434071 0.00001
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=) rs769758485 0.00001
NM_031935.3(HMCN1):c.5875C>T (p.Arg1959Cys) rs149920975 0.00001
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=) rs777752487 0.00001
NM_031935.3(HMCN1):c.6249C>T (p.Cys2083=) rs368334157 0.00001
NM_031935.3(HMCN1):c.6564T>G (p.Asn2188Lys) rs1656752926 0.00001
NM_031935.3(HMCN1):c.6996C>G (p.Pro2332=) rs767597600 0.00001
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) rs530178194 0.00001
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val) rs1167111929 0.00001
NM_031935.3(HMCN1):c.7426+15T>A rs1198026867 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.793+9T>C rs375021941 0.00001
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg) rs1172387552 0.00001
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala) rs577435610 0.00001
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe) rs201586866 0.00001
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile) rs376875658 0.00001
NM_031935.3(HMCN1):c.8652G>C (p.Val2884=) rs1221324876 0.00001
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr) rs886045662 0.00001
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met) rs556443296 0.00001
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu) rs574155244 0.00001
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys) rs747230633 0.00001
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His) rs375407833 0.00001
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327 0.00001
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr) rs886045676 0.00001
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser) rs146969586 0.00001
NM_031935.3(HMCN1):c.*223A>G rs1653630018
NM_031935.3(HMCN1):c.*396T>G rs886045694
NM_031935.3(HMCN1):c.*768G>T rs560234419
NM_031935.3(HMCN1):c.*927T>C rs886045699
NM_031935.3(HMCN1):c.*982T>G rs886045700
NM_031935.3(HMCN1):c.-40T>C rs886045659
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln) rs369620574
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly) rs201041141
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu) rs886045679
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro) rs141818688
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala) rs145492995
NM_031935.3(HMCN1):c.11240G>C (p.Arg3747Thr) rs886045680
NM_031935.3(HMCN1):c.11404+11G>T rs187354891
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
NM_031935.3(HMCN1):c.11531T>C (p.Leu3844Pro) rs1661087003
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
NM_031935.3(HMCN1):c.11687C>T (p.Pro3896Leu) rs761533889
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
NM_031935.3(HMCN1):c.11953C>T (p.His3985Tyr) rs886045681
NM_031935.3(HMCN1):c.12003G>T (p.Leu4001=) rs752889177
NM_031935.3(HMCN1):c.12047G>T (p.Ser4016Ile) rs1661313788
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
NM_031935.3(HMCN1):c.12455A>G (p.Asn4152Ser) rs1661480969
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
NM_031935.3(HMCN1):c.12763A>C (p.Thr4255Pro) rs1661739529
NM_031935.3(HMCN1):c.12850A>G (p.Thr4284Ala) rs886045683
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.12936A>G (p.Glu4312=) rs1661842867
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
NM_031935.3(HMCN1):c.13078A>T (p.Ile4360Phe) rs372109906
NM_031935.3(HMCN1):c.13231-12T>G rs1661981826
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser) rs367723447
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
NM_031935.3(HMCN1):c.14437+6C>T rs972515280
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
NM_031935.3(HMCN1):c.14608+14T>G rs150050864
NM_031935.3(HMCN1):c.14649T>G (p.Ile4883Met) rs886045686
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_031935.3(HMCN1):c.15018+7T>A rs886045687
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala) rs767233028
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys) rs749090856
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr) rs886045688
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser) rs142062263
NM_031935.3(HMCN1):c.15601C>T (p.Pro5201Ser) rs1652220614
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=) rs538516291
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
NM_031935.3(HMCN1):c.1589C>T (p.Thr530Ile) rs189951644
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) rs780673178
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
NM_031935.3(HMCN1):c.16414+12T>C rs886045692
NM_031935.3(HMCN1):c.16602G>A (p.Leu5534=) rs1653581731
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe) rs369798131
NM_031935.3(HMCN1):c.16627T>C (p.Phe5543Leu) rs886045693
NM_031935.3(HMCN1):c.16728G>A (p.Gln5576=) rs749265997
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
NM_031935.3(HMCN1):c.1824G>T (p.Val608=) rs756585754
NM_031935.3(HMCN1):c.2086C>G (p.Leu696Val) rs886045663
NM_031935.3(HMCN1):c.2099-11G>A rs886045664
NM_031935.3(HMCN1):c.2126G>A (p.Ser709Asn) rs886045665
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val) rs886045666
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=) rs775972475
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His) rs886045667
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) rs568780532
NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn) rs1661793285
NM_031935.3(HMCN1):c.3520C>G (p.Gln1174Glu) rs1468012804
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=) rs368008071
NM_031935.3(HMCN1):c.4163del (p.Pro1388fs) rs879255520
NM_031935.3(HMCN1):c.4181G>T (p.Trp1394Leu) rs1653190129
NM_031935.3(HMCN1):c.4212C>T (p.Ser1404=) rs1653204941
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu) rs886045669
NM_031935.3(HMCN1):c.4440T>C (p.Thr1480=) rs767657987
NM_031935.3(HMCN1):c.4511del (p.Leu1504fs) rs1558137982
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys) rs765224895
NM_031935.3(HMCN1):c.4896T>C (p.His1632=) rs377764090
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
NM_031935.3(HMCN1):c.5300+7G>T rs367562861
NM_031935.3(HMCN1):c.5327A>T (p.Asp1776Val) rs376847972
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys) rs756344375
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
NM_031935.3(HMCN1):c.5820G>T (p.Leu1940=) rs1655949105
NM_031935.3(HMCN1):c.5852-1G>A rs886045673
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=) rs886045674
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys) rs200822474
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
NM_031935.3(HMCN1):c.6292C>A (p.Leu2098Ile)
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=) rs367790421
NM_031935.3(HMCN1):c.6309G>C (p.Pro2103=) rs367790421
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=) rs764699819
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
NM_031935.3(HMCN1):c.7307T>C (p.Leu2436Pro) rs886045675
NM_031935.3(HMCN1):c.7426+8T>C
NM_031935.3(HMCN1):c.7615A>G (p.Asn2539Asp) rs1335242665
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
NM_031935.3(HMCN1):c.782G>A (p.Arg261His) rs753817944
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser) rs1658366937
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
NM_031935.3(HMCN1):c.8600-14C>G rs1254696195
NM_031935.3(HMCN1):c.8618G>A (p.Gly2873Glu) rs1659149388
NM_031935.3(HMCN1):c.8739G>T (p.Leu2913Phe) rs1659158548
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro) rs752694815
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe) rs192222844
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=) rs886045677
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
NM_031935.3(HMCN1):c.9571C>T (p.Arg3191Cys)
NM_031935.3(HMCN1):c.9657T>G (p.Ser3219Arg) rs886045678
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)

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